Papillon-Lefèvre syndrome
| Classification according to ICD-10 | |
|---|---|
| Q82.8 | Other specified congenital skin malformations |
| ICD-10 online (WHO version 2019) | |
The Papillon-Lefevre syndrome is a rare, autosomal - recessive inherited excessive keratinization of the skin ( hyperkeratosis ), mainly on the palms and soles, with severe periodontitis . The deciduous teeth and permanent teeth of the patient are usually lost early due to the rapid bone loss. The inflamed gums (gingiva) show the bright red gingival margin often observed in the presence of systemic general diseases .
The underlying mutation is in the gene for cathepsin C on chromosome 11 .
swell
- E. Hellwig, J. Klimek, T. Attin Introduction to tooth preservation. Urban and Fischer 2003 ISBN 978-3-437-05051-0
Web links
- Papillon-Lefèvre syndrome. In: Online Mendelian Inheritance in Man . (English)
